HEREDITARY HEMOGLOBINOPATHIES
Authors: MILTON S. SACKS
Journal: Annals of Internal Medicine (1954)

Editorial1 October 1954HEREDITARY HEMOGLOBINOPATHIESMILTON S. SACKS, M.D.MILTON S. SACKS, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-41-4-849 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptIn 1923 Taliaferro and Huck1proposed the theory that sickle cell disease, first described by Herrick2in 1910, was due to the inheritance of an abnormal gene which behaved as a Mendelian dominant characteristic. Clinical variation in severity, characterized as sicklemia (sickle cell trait) and sickle cell anemia respectively, was believed due to a difference in penetrance or expression of the abnormal gene. In vitro demonstration of sickling by exposure of erythrocytes to reduced oxygen tension, does not permit differentiation of the two clinical states. In 1940 Sherman3noted that a considerably greater reduction in oxygen tension was required to...1 TaliaferroHuck WHJG: The inheritance of sickle cell anemia in man, Genetics 8: 594, 1923. CrossrefMedlineGoogle Scholar2 Herrick JB: Peculiar elongated and sickle-shaped red corpuscles in a case of severe anemia, Arch. Int. Med. 6: 517, 1910. CrossrefGoogle Scholar3 Sherman IJ: The sickling phenomenon with special reference to the differentiation of sickle cell anemia from the sickle cell trait, Bull. Johns Hopkins Hosp. 67: 309, 1940. Google Scholar4 Neel JV: The inheritance of sickle cell anemia, Science 110: 64, 1949. CrossrefMedlineGoogle Scholar5 PaulingItanoSingerWells LHASJIC: Sickle cell anemia, a molecular disease, Science 110: 543, 1949. CrossrefMedlineGoogle Scholar6 Motulsky AG: A study of hereditary hemoglobinopathies, Clin. Research Proc. 2: 137, 1954. Google Scholar7 BeavenHochHoliday GHHER: The hemoglobins of the human fetus and infant. 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SACKS, M.D.Affiliations: PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byTHE GENETICS OF HUMAN HAEMOGLOBIN DIFFERENCES: PROBLEMS and PERSPECTIVES 1 October 1954Volume 41, Issue 4Page: 849-854KeywordsAnemiaHemoglobinopathiesOxygenSickle cell disease ePublished: 1 December 2008 Issue Published: 1 October 1954 PDF downloadLoading ...